Variant report

Variant	rs12365472
Chromosome Location	chr11:57086455-57086456
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57059815..57061654-chr11:57084021..57086891,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10792086	0.92[ASN][1000 genomes]
rs10792088	0.92[ASN][1000 genomes]
rs10792089	0.92[ASN][1000 genomes]
rs10792091	1.00[ASN][1000 genomes]
rs10896598	1.00[ASN][1000 genomes]
rs10896603	0.92[ASN][1000 genomes]
rs10896604	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896605	0.92[ASN][1000 genomes]
rs10896608	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11228995	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11228997	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229003	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229011	1.00[ASN][1000 genomes]
rs11602265	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11602266	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11603691	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11607950	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12361969	0.82[ASN][1000 genomes]
rs12576878	0.92[ASN][1000 genomes]
rs1815769	1.00[ASN][1000 genomes]
rs2230649	0.92[ASN][1000 genomes]
rs34135716	0.92[ASN][1000 genomes]
rs4938863	0.92[ASN][1000 genomes]
rs4938864	1.00[ASN][1000 genomes]
rs61888886	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61888887	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61888888	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7106462	0.92[ASN][1000 genomes]
rs7111339	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129491	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7951793	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv541048	chr11:57076815-57120781	Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57079200-57091400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr11:57079400-57089600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:57079400-57091400	Weak transcription	Primary B cells from cord blood	blood
4	chr11:57079600-57089400	Weak transcription	GM12878-XiMat	blood
5	chr11:57079600-57090800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr11:57079800-57087400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr11:57079800-57088200	Genic enhancers	Pancreas	Pancrea
8	chr11:57079800-57089000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr11:57079800-57089400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr11:57079800-57090400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr11:57080000-57088200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:57080200-57088800	Strong transcription	Dnd41	blood
13	chr11:57082000-57086800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:57082200-57086600	Genic enhancers	Rectal Mucosa Donor 31	rectum
15	chr11:57082400-57086800	Genic enhancers	Fetal Stomach	stomach
16	chr11:57082400-57087600	Genic enhancers	Fetal Muscle Leg	muscle
17	chr11:57082800-57086800	Genic enhancers	Duodenum Smooth Muscle	Duodenum
18	chr11:57082800-57088600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:57082800-57089200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:57082800-57089200	Genic enhancers	Placenta	Placenta
21	chr11:57083000-57088000	Genic enhancers	Right Ventricle	heart
22	chr11:57083000-57088200	Genic enhancers	Ovary	ovary
23	chr11:57083200-57088200	Genic enhancers	Esophagus	oesophagus
24	chr11:57083600-57086800	Strong transcription	Hela-S3	cervix
25	chr11:57083800-57088000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
26	chr11:57083800-57088200	Strong transcription	HepG2	liver
27	chr11:57083800-57089200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr11:57083800-57090800	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr11:57083800-57090800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr11:57083800-57091400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:57084000-57088600	Weak transcription	Fetal Heart	heart
32	chr11:57084000-57088800	Strong transcription	H9 Cell Line	embryonic stem cell
33	chr11:57084000-57089200	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:57084200-57086800	Genic enhancers	Rectal Mucosa Donor 29	rectum
35	chr11:57084200-57086800	Genic enhancers	Rectal Smooth Muscle	rectum
36	chr11:57084200-57087600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:57084200-57088800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr11:57084200-57089000	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr11:57084400-57087000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
40	chr11:57084400-57088400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:57084400-57088800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr11:57084600-57086800	Genic enhancers	Stomach Mucosa	stomach
43	chr11:57084600-57088800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:57084600-57089200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:57084800-57089000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:57084800-57090600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr11:57085000-57087600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:57085000-57091000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr11:57085200-57087000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:57085200-57087000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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